Malignant Rhabdoid Tumor Follow-up

Updated: Oct 09, 2018
  • Author: James I Geller, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Follow-up

Further Outpatient Care

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  • The myelosuppressive effects of the chemotherapy used to treat malignant rhabdoid tumor necessitate frequent monitoring of blood counts on an outpatient basis.

  • In addition, serum electrolyte levels and renal function must be observed closely because patients have a single kidney and often receive nephrotoxic chemotherapeutic agents. Electrolyte supplementation is not uncommonly required.

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Further Inpatient Care

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  • Treatment for malignant rhabdoid tumor (MRT) requires frequent inpatient admissions to administer chemotherapy and to manage complications of treatment, such as febrile neutropenia.

  • The duration of therapy is approximately 6-12 months.

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Inpatient & Outpatient Medications

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  • Chemotherapy regimens for malignant rhabdoid tumor are immunosuppressive.

  • As such, prophylaxis for Pneumocystis carinii pneumonia (PCP) is recommended. Trimethoprim-sulfamethoxazole or pentamidine are the first choices for PCP prophylaxis.

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Transfer

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  • Initial transfer to the care of a pediatric oncologist, preferably one at a center that participates in clinical trials, is recommended.

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Deterrence/Prevention

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  • In most cases, the cause of MRT is unknown; thus, no preventive measures can be prescribed.
  • With advancements in genetic testing and counseling, families, including neonates, with rhabdoid tumor predisposition can be identified.
    • Recommendations for surveillance of individuals found to carry a constitutional SMARCB1 mutation are not based on evidence.
    • Unclear penetrance, gonadal mosaicism, and risk of multiple primary tumors confound assessing an individual's cancer risk. However, infants and young children with germline SMARCB1 mutation develop the most aggressive forms of MRT within the first two years of life; therefore, screening such infants with noninvasive radiological techniques might enable cancer detection at an earlier cancer stage, and an earlier diagnosis can be hypothesized to impact overall prognosis.
    • As such, the current screening plan includes the use of serial abdominal and transcranial ultrasonography (monthly for 1 year) with more detailed MRI performed every 3 months during the first year of life, with continued surveillance into the second and third year of life.
    • The risk of cancer development in late childhood and beyond in affected patients with constitutional SMARCB1 mutations remains even less predictable, making it challenging to prescribe a screening plan at this time.
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Complications

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  • Complications related to tumoral progression: MRTs in the abdomen can rapidly progress, as can those at metastatic sites, including the lungs, liver, and brain. MRTs can be associated with tumoral hemorrhage and organ failure.
  • Complications related to treatment:
    • Hematologic complications: The major acute complication of chemotherapy for MRTs is myelosuppression, which places patients at risk for serious infections. Patients require frequent RBC and platelet transfusions.
    • Renal complications: Patients may have renal tubular dysfunction, with wasting of protein, phosphorous, bicarbonate, and other electrolytes if platinum drugs or ifosfamide are used. The long-term prevalence of renal failure is unknown because MRTs are rare and the survival rate is low. Renal failure is uncommon in patients with unilateral Wilms tumor; however, patients with MRTs are treated intensively and with additional nephrotoxic drugs.
    • Cardiac complications: Some treatment regimens for MRTs include anthracyclines, which can cause arrhythmias and congestive heart failure. Cardiac function should be monitored periodically.
    • Gonadal complications: Ifosfamide and cyclophosphamide are associated with a risk of infertility.
    • Secondary cancers: The risk of secondary cancers from chemotherapy and/or radiation, particularly in patients with a genetic rhabdoid cancer predisposition, remain unknown.
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Prognosis

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  • The prognosis for children with MRTs remains fair to poor, depending on the stage of the tumor at presentation, the patient's age at diagnosis, and possibly the genetic background.

  • The hope is that new multi-institutional clinical trials will help in identifying novel therapies that improve the outcome of patients with this disease.

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Patient Education

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  • Patients and families should be educated about MRT and its aggressive biologic behavior.

  • Although families must be given hope for a cure, they must also be made aware of the unfavorable prognosis associated with MRTs. Families must also understand the risks of intensive chemotherapy and the signs and symptoms that require immediate medical attention.

Genetic counseling

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  • Genetic counseling is highly recommended for all MRT affected families.

  • The incidence of germline deletions or missense mutations of SMARCB1 in infants and children with MRT approximates 15-30%. Families with more than one affected child have been reported; in 2 families, evidence of germline mosaicism was suggested because neither parent had a mutation in their own peripheral blood. The incidence and age distribution of cancer in individuals with inherited SMARCB1 mutations has not been formally studied, but adults without cancer have been shown to transmit the abnormal allele in at least 3 families, and individuals with germline perturbations of SMARCB1 are predisposed to malignant rhabdoid tumors of the kidney, soft tissues, and brain and may, in fact, present with more than one primary tumor.

  • Accumulating evidence suggests that individuals with a confirmed MRT should be evaluated for SMARCB1 expression in the tumor. Direct evaluation of the tumor by karyotyping, fluorescence in situ hybridization (FISH), or genomic microarray, with high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification as necessary, should be pursued to detect the mechanisms for biallelic silencing of SMARCB1 expression. Direct sequencing of SMARCB1 for missense mutations is recommended if abnormalities are not seen in both alleles. Evaluation of peripheral blood should follow tumor analysis. The finding of a chromosomal abnormality involving 22q or SMARCB1 missense mutation in the germline of an affected individual would then be followed by testing both parents. Because sibling recurrence is known to occur, testing of siblings, particularly those younger than 5 years, should be considered, even if bothparents are healthy.

  • Surveillance of individuals found to carry a constitutional SMARCB1 mutation for the development of CNS or abdominal MRT may be advisable (see Deterrence/Prevention).

 

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